ORPHA:3214
Deaf blind hypopigmentation syndrome, Yemenite type
Also known as: Warburg-Thomsen syndrome · Yemenite deaf-blind hypopigmentation syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Clinical definition (Orphanet)
Yemenite deaf-blind hypopigmentation syndrome is an exceedingly rare genetic disorder characterized by cutaneous pigmentation anomalies, ocular disorders and hearing loss.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
16
16 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
16 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · high confidence · 9.6th percentile (publications denominator)
Is a treatment being tested?
0
trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (SOX10).
GenCC classification: Definitive.
Who's working on it?
83
Distinct author names in 16 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Baxter LL2 papers · 2013
Mouse Embryology Section, Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 02Bondurand N2 papers · 2007
INSERM U841, Institut Mondor de Recherche Biomedicale, Département de Génétique, Université Paris 12, Paris, France. nadege.bondurand@creteil.inserm.fr
Papers in Europe PMC - 03Goossens M2 papers · 2007Papers in Europe PMC
- 04Hennekam RC2 papers · 1999
Institute of Human Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Papers in Europe PMC - 05Kingsmore S2 papers · 2012Papers in Europe PMC
- 06Pavan WJ2 papers · 2013Papers in Europe PMC
- 07Pingault V2 papers · 2007Papers in Europe PMC
- 08Tommerup N2 papers · 1999Papers in Europe PMC
- 09Warburg M2 papers · 1999
Department of Ophthalmology, University Hospital, Gentofte, Denmark.
Papers in Europe PMC - 10Abe Y1 paper · 2012Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it above — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Deaf blind hypopigmentation syndrome, Yemenite type" OR "Warburg-Thomsen syndrome" OR "Yemenite deaf-blind hypopigmentation syndrome"
MeSH descriptor terms unioned into the query: Yemenite deaf-blind hypopigmentation syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Deaf blind hypopigmentation syndrome, Yemenite type" OR "Warburg-Thomsen syndrome" OR "Yemenite deaf-blind hypopigmentation syndrome" OR "SOX10"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C536771 OMIM:601706 UMLS:C1866425
Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus